All my life I knew I was born to be a mother. When my husband and I found out that we were expecting our little boy, we were over-the-moon excited. When Roman was born, we couldn't believe he was ours. He was utterly perfect. The happiest, most easy-going child with the sweetest smile that could melt any heart. When he looked at us with his crystal blue eyes it was like he was looking into our souls. Nothing else in the world mattered in that moment. Hearing his infectious squeaky laugh was enough to turn even the worst day around. After 8 blissful months of pure joy, our world was completely turned upside down when our perfect baby boy was diagnosed with a very rare and fatal genetic disease called Acid Sphingomyelinase Deficiency (ASMD), also referred to as Niemann-Pick Disease Types A & B (NPA & NPB). This disease will likely cut his life immensely short.
To make matters more difficult, we found out that we were expecting our little girl just three days before learning of Roman's diagnosis. We quickly found out that she too had a 25% chance of inheriting the same gene mutations as our son. Our beautiful, curious and fierce little girl, Stella, was diagnosed shortly after birth and our world came crashing down yet again. Each time we learned of their diagnosis and each time we thought about what they were going to have to endure, our hearts were shattered. Not once. But, twice. We knew we had a long and scary journey ahead of us but we were ready to fight.
Advances in medicine have put a cure in reach through gene therapy which is showing real promise as a way to replace the faulty gene in their DNA that is making them so sick. There is also the promise of a small molecule approach (oral medication) that could help slow down or possibly stop the progression of neurological disease. You might wonder why these treatments are not accessible if the science is ready to help our children. The sad fact is that because of the extreme rarity of Roman and Stella’s disease, they do not have the same level of access to cures that kids with more common disorders have. Roman and Stella’s disease is so rare that pharmaceutical companies and biotech companies cannot justify investing in or prioritizing programs to develop cures for ultra-rare diseases, so far too often, children like Stella and Roman, who have a disease that less than 200 other kids in the world have, get left behind.
It was thought early on in Roman's diagnosis that he may not have neurological involvement or at the least fall more toward the "B" (non neurological) end of the spectrum, but we have recently learned that our sweet boy does in fact have neurological involvement from this devastating disease. We have watched our son regress over the past year from the happy, playful boy who was so full of life, who loved to turn pages of books, laugh at silly words, blow kisses, mimic words and sounds, and play with his toys to a toddler who can now no longer sit up on his own and barely lift his arm to reach for a toy. As if this weren't difficult enough, we have now begun to watch our beautiful daughter start to regress over the past 3 months. Just a few short months ago she was taking steps with confidence and strength, and now she cannot even stand. We are in a race against time to get our children proper treatment to stop the progression of this fast moving disease. Our son has been receiving an enzyme replacement therapy for the past six months that has delivered some very encouraging changes within his body, but unfortunately this treatment does not cross the blood brain barrier to slow down the progression of his neurologic disease.
The good news, however, is that there are some incredible doctors working on some promising treatments and their work has resulted in amazing outcomes for other children with ultra-rare genetic diseases. Today, the only thing holding back the availability of a cure is money. No pharmaceutical or bio-tech company will prioritize these programs, so it is up to us. It is up to us to raise the money that is needed to begin the clinical trials that can save the lives of our children and all the other children with this devastating disease. We are hopeful that as a community, we can raise the funds to develop this cure. We CAN do this with your support.
Our children deserve a chance at life. We can also change the lives of other children and provide hope to families just like us, but we need your help to spread the word and we need to act quickly. Every day that passes we see our sweet children beginning the downward spiral common with this disease.
We are in a race against time to develop the cure they need to survive. We long for the day that we can hold our children free of tubes and wires, when we can watch them running and playing with their cousins, when they will enjoy the flavors and textures of a good meal, and experience the joy of going to school. We long for the day when we hear the words “I love you” from our children’s lips. We KNOW this day is within reach. Our babies are fighters. With your help, we know we can win this race. We know the cure is possible. Our hope lies in the knowledge there are potential treatments that can save their lives. Please help us save Roman and Stella so they can live the lives they deserve.
With everlasting gratitude,
Jillian and Don Arnold (Roman and Stella's parents)